Literature DB >> 1277576

Familial partial trisomy 6q syndromes resulting from inherited ins (5;6) (q33;q15q27).

H Chen, M Tyrkus, F Cohen, P V Woolley, K Mayeda, A Bhogaonker, C E Espirtu, W Simpson.   

Abstract

Two cases are reported of familial partial trisomy 6q syndrome due to segregation of ins(5;6) (q33;q15q27) in three generations. The common clinical features include growth and mental retardation, feeding difficulty during infancy, microcephaly with downward slanting palpebral fissures, flattened nasal bridge with anteverted and flared nares, long philtrum, high arched palate, partially opened and protruding mouth with receding chin, deep transverse creases of the ears, three creases on the 4th fingers, clinodactyly of the 5th fingers with a single crease, and other dermatoglyphic findings. These characteristic features of two patients appear to make partial trisomy 6q a clinically recognizable syndrome.

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Year:  1976        PMID: 1277576     DOI: 10.1111/j.1399-0004.1976.tb01625.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  3 in total

Review 1.  Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

Authors:  E K Pivnick; M B Qumsiyeh; A T Tharapel; J B Summitt; R S Wilroy
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

2.  Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.

Authors:  M Moller; D García-Cruz; H Rivera; J Sánchez-Corona; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

3.  Trisomy 6q25 to 6qter in a severely retarded 7-year-old boy with turricephaly, bow-shaped mouth, hypogenitalism and club feet.

Authors:  W Schmid; V D'Apuzzo; E Rossi
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132

  3 in total

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